Increased female autosomal burden of rare copy number variants in human populations and in autism families

Mol Psychiatry. 2015 Feb;20(2):170-5. doi: 10.1038/mp.2014.179. Epub 2015 Jan 13.

Abstract

Autosomal genetic variation is presumed equivalent in males and females and makes a major contribution to disease risk. We set out to identify whether maternal copy number variants (CNVs) contribute to autism spectrum disorders (ASDs). Surprisingly, we observed a higher autosomal burden of large, rare CNVs in females in the population, reflected in, but not unique to, ASD families. Meta-analysis across control data sets confirms female excess in CNV number (P=2.1 × 10(-5)) and gene content (P=4.1 × 10(-3)). We additionally observed CNV enrichment in ASD mothers compared with control mothers (P=0.03). We speculate that tolerance for CNV burden contributes to decreased female fetal loss in the population and that ASD-specific maternal CNV burden may contribute to high sibling recurrence. These data emphasize the need for study of familial CNV risk factors in ASDs and the requirement of sex-matched comparisons.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autism Spectrum Disorder / genetics*
  • Case-Control Studies
  • Chi-Square Distribution
  • DNA Copy Number Variations / genetics*
  • Family Health*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genome, Human
  • Humans
  • Infant, Newborn
  • Male
  • Meta-Analysis as Topic
  • Mother-Child Relations
  • Polymorphism, Single Nucleotide / genetics*
  • Pregnancy
  • Risk Factors